DiseaseID 25793
α-甲基乙酰乙酸尿症
Alpha-Methylacetoacetic Aciduria
NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsib
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Disease: 1Symptom: 4Target: 18Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25793
- Core Entity Id
- 118361
- Source Entity Count
- 1
- Preferred Name
- Alpha-Methylacetoacetic Aciduria
- Name Cn
- α-甲基乙酰乙酸尿症
- Name Pinyin
- Α- Jia Ji Yi Xian Yi Suan Niao Zheng
- Name En
- Alpha-Methylacetoacetic Aciduria
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Alpha-Methylacetoacetic Aciduria
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1536500
Sym Map
SMDE00376
Etcm Disease
Alpha-Methylacetoacetic Aciduria
Itcmdb Generated
ITX-DISEASE-7B2EA1A95E73
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Alpha-Methylacetoacetic Aciduria Details page
Basic Information
Disease Name
Alpha-Methylacetoacetic Aciduria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Nephrological diseases;Respiratory diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma.